Variant report

Variant	rs73725831
Chromosome Location	chr6:13453663-13453664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13453259..13455801-chr6:13460525..13463218,2	K562	blood:
2	chr6:13451477..13453744-chr6:13519512..13521827,2	MCF-7	breast:
3	chr6:13452284..13455212-chr6:13484298..13488054,4	K562	blood:
4	chr6:13447200..13448830-chr6:13453406..13456212,2	MCF-7	breast:
5	chr6:13451248..13453948-chr6:13613649..13615932,2	MCF-7	breast:
6	chr6:13453145..13455587-chr6:13457422..13460283,2	K562	blood:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000218265	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11964734	1.00[AMR][1000 genomes]
rs2434393	1.00[AMR][1000 genomes]
rs2434394	1.00[AMR][1000 genomes]
rs2494771	1.00[AMR][1000 genomes]
rs2560750	1.00[AMR][1000 genomes]
rs2560751	1.00[AMR][1000 genomes]
rs2560752	1.00[AMR][1000 genomes]
rs2560753	1.00[AMR][1000 genomes]
rs2560816	1.00[AMR][1000 genomes]
rs2560818	1.00[AMR][1000 genomes]
rs2841553	1.00[AMR][1000 genomes]
rs2841554	1.00[AMR][1000 genomes]
rs2841556	1.00[AMR][1000 genomes]
rs2841557	1.00[AMR][1000 genomes]
rs2841558	1.00[AMR][1000 genomes]
rs2841559	1.00[AMR][1000 genomes]
rs58453010	0.83[AMR][1000 genomes]
rs59772696	1.00[AMR][1000 genomes]
rs6931785	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs766773	1.00[AMR][1000 genomes]
rs7774411	0.83[AMR][1000 genomes]
rs9382115	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
2	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:13441600-13454400	Weak transcription	Placenta	Placenta
4	chr6:13445200-13457800	Enhancers	Right Atrium	heart
5	chr6:13445400-13454000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:13445400-13454000	Weak transcription	Pancreas	Pancrea
7	chr6:13445600-13454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:13445600-13454200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:13445600-13454800	Weak transcription	K562	blood
10	chr6:13445600-13461800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:13445800-13454200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:13445800-13454600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:13446200-13454000	Weak transcription	Fetal Brain Female	brain
14	chr6:13446200-13454200	Weak transcription	HSMMtube	muscle
15	chr6:13447000-13454000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:13447200-13454000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:13448200-13458200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:13448600-13454000	Weak transcription	Thymus	Thymus
19	chr6:13448800-13454000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:13448800-13454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:13449000-13453800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:13449000-13453800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:13449000-13454000	Weak transcription	Brain Angular Gyrus	brain
24	chr6:13449000-13454000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:13449000-13454400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:13449000-13454400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:13449000-13457200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:13449000-13461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:13449200-13453800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:13449200-13453800	Weak transcription	HMEC	breast
31	chr6:13449200-13454000	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:13449200-13454000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:13449400-13453800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:13449400-13454000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:13449400-13454000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:13449400-13454000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:13449400-13454000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:13449400-13454200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:13449400-13454200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:13449600-13454000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:13449600-13454000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:13449600-13455800	Weak transcription	Aorta	Aorta
43	chr6:13449800-13454000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:13450000-13453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:13450400-13454000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:13451000-13454000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:13451400-13454000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:13451600-13454400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:13451600-13454400	Weak transcription	Fetal Lung	lung
50	chr6:13451600-13454400	Weak transcription	Fetal Muscle Leg	muscle

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